A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11844328



Internal ID3179054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:25034545..25038361hg38UCSC Ensembl
Innerchr5:25034545..25038361hg38UCSC Ensembl
Outerchr5:25034355..25038550hg38UCSC Ensembl
chr5:25034654..25038470hg19UCSC Ensembl
Innerchr5:25034654..25038470hg19UCSC Ensembl
Outerchr5:25034464..25038659hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg383817
hg193817
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604409
Supporting Variants
SamplesHG02793
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11844328
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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